Erratum to: Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population

Resequencing of one of the patients with FANCD1 who was included in our manuscript (Table 4) July 2020 of Haematologica¹ revealed that he was not homozygous to the common variant in this gene, but rather compound heterozygous to the variants c.5946del (p.Ser1982Argfs*22) and c.7007G>C (p.Arg2336Pro).

This resulted in changes in the Results section (Genetics part, pages 1,829-1,831 in the original paper), that should now read:

Thirty-five different mutations were found, including 22 in FANCA, four in FANCD1 and three each in FANCC, FANCD1, FANCG and FANCJ (Table 4); 75 patients were homozygous for mutations in Fanconi genes, and 13 patients were compound heterozygous; 33 different combinations of mutations were found (Table 4); 20 novel mutations were detected in the cohort, as detailed in the Online Supplementary Table S1; seven of these were previously reported by our group.^13-15 The type of mutation varied, as detailed in Table 4. Twenty-five patients had frameshift mutations, 19 patients had splice site mutations, 15 patients had deletions, 13 patients had nonsense mutations, nine patients had missense mutations and seven patients had a combination of mutation types.

Corrected Table 4.

Genetics of Fanconi anemia in Israel.